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Friedreich's Ataxia in Northern Italy: I. Clinical, Neurophysiological and In Vivo Biochemical Studies

Published online by Cambridge University Press:  18 September 2015

A. D’Angelo ,
S. Di Donato ,
G. Negri ,
F. Beulche ,
G. Uziel  and
R. Boeri
A. D’Angelo
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
S. Di Donato
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
G. Negri
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
F. Beulche
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
G. Uziel
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
R. Boeri
Affiliation:
Instituto Neurologico “C. Besta”, Milano, Italy
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Summary:

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Eighteen patients with the presumptive diagnosis of Friedreich's ataxia were studied. Clinical, neurophysiological and biochemical data were concordant in 14 patients and led to the diagnosis of typical Friedreich's ataxia in this group of patients. The remaining 4 patients differed from the typical patients in several respects, but mainly in the cardiological findings. It is concluded that no single clinical or laboratory finding is typical of F.A. Multidisciplinary approaches are essential to the diagnosis of Friedreich's ataxia.

Type
Quebec Cooperative Study of Friedreich's Ataxia
Information
Canadian Journal of Neurological Sciences , Volume 7 , Issue 4 , November 1980 , pp. 359 - 365
Copyright
Copyright © Canadian Neurological Sciences Federation 1980

References

REFERENCES

Barbeau, A. (1976). Quebec cooperative study of F.A.: design of the investigation. Can. J. Neurol. Sci. 3: 271–274.CrossRefGoogle Scholar
Barbeau, A., Butterworth, R.F., Ngo, T., Breton, G., Melançon, S., Shapcott, D., Geoffroy, G. and Lemieux, B. (1976). Pyruvate metabolism in Friedreich’s ataxia. Can. J. Neurol. Sci. 3: 379–388.CrossRefGoogle ScholarPubMed
Barbeau, A. (1978). Cooperative study: Phase two. Statement of the problems. Can. J. Neurol. Sci. 5: 57–59.CrossRefGoogle ScholarPubMed
Barbeau, A. (1979). Friedreich’s ataxia 1979: an overview. Can. J. Neurol. Sci. 6: 311–319.CrossRefGoogle ScholarPubMed
Blass, J.P., Avigan, J. and Uhlendorf, B.W. (1970). A defect in pyruvate decarboxylase in a child with intermittent movement disorder. J. Clin. Invest. 49: 423–432.CrossRefGoogle Scholar
Blass, J.P., Kark, P.R.A. and Marion, N.K. (1976). Low activities of the pyruvate and oxoglutarate dehydrogenase complexes in five patients with Friedreich’s ataxia. New Engl. J. Med. 8: 62–67.CrossRefGoogle Scholar
Butterworth, R.F., Shapcott, D., MelançON, S., Breton, G., Geoffroy, G., Lemieux, B. and Barbeau, A. (1976). Clinical laboratory findings in Friedreich’s ataxia. Can. J. Neurol. Sci. 3: 355–358.CrossRefGoogle ScholarPubMed
Dick, P.J. and Lambert, E.H. (1968a). Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. Io neurologic genetic and electrophysiologic findings in hereditary polyneuropathies. Arch. Neurol. 18: 603–618.CrossRefGoogle Scholar
Dick, P.J. and Lambert, E.H. (1968b). Lower motor and primary neuron diseases with peroneal muscular atrophy. IIo neurologic genetic and electrophysiologic findings in various neuroneal degeneration. Arch. Neurol. 18: 619–625.CrossRefGoogle Scholar
Dick, P.J. and Lambert, E.H., Sanders, K. and O’brien, P.C. (1971). Severe hypo-myelination and marked abnormality of conduction in Déjerine-Sottas hypertrophic neuropathy: myelin and compound action potential of sural nerve in vitro. Mayo Clinic Proc. 46: 432–440.Google Scholar
Di Donato, S., Cornelio, F., Balestrini, M.B., Bertagnolio, B. and Peluchetti, D. (1978). Mitochondria-lipid-glycogen myopathy, hyperlactacidemia and carnitine deficiency. Neurology 28: 1110–1116.CrossRefGoogle ScholarPubMed
Filla, A., Butterworth, R.F., Geoffroy, G., Lemieux, B. and Barbeau, A. (1978). Serum and platelet lipoamide dehydrogenase in Friedreich’s ataxia. Can. J. Neurol. Sci. 5: 111–114.CrossRefGoogle ScholarPubMed
Geoffroy, G., Barbeau, A., Breton, G., Lemieux, B., Aubé, M., Léger, C. and Bouchard, J.P. (1976). Clinical description and roentgenologic evaluation of patients with F.A. Can. J. Neurol. Sci. 4: 279.CrossRefGoogle Scholar
Hewer, R.L. (1968). Study of fatal cases of Friedreich’s ataxia. Brit. Med. J. 3: 649–652.CrossRefGoogle ScholarPubMed
Huang, Y.S., Nestruck, A.C., Barbeau, A., Bouchard, J.P. and Davignon, J. (1978). Plasma lipids and lipoproteins in Friedreich’s ataxia and familial spastic ataxia. Evidence for an abnormal composition of high density lipoproteins. Can. J. Neurol. Sci. 5: 149–156.CrossRefGoogle ScholarPubMed
Kark, P.R.A., Blass, J.P. and Engel, W.K. (1974). Pyruvate oxidation in neuromuscular diseases. Neurology 24: 864–871.Google ScholarPubMed
Kark, P.R.A. and Rodriquez-Budelli, M. (1979). Pyruvate dehydrogenase deficiency in spinocerebellar degenerations. Neurology 29: 126–131.CrossRefGoogle ScholarPubMed
Lapresle, J. (1956). Contribution à l’étude de la Dystasie aréflexique héréditaire. Etat actuel de quatre des sept cas princeps de Roussy et Mlle Levy, trente années après la première publication de ces auteurs. Sem Hôp Paris 32: 2473–2482.Google Scholar
McLeod, J.G. (1971). An electrophysiological and pathological study of peripheral nerves in Friedreich’s ataxia. J. Neurol. Sci. 12: 333–349.CrossRefGoogle ScholarPubMed
McLeod, P.M., Wood, S. and Jean, J.E (1977). Progressive cerebellar ataxia, spasticity psychomotor retardation and hexosaminidase deficiency in a 10-year-old child. Juvenile Sandhoff disease. Neurology 27: 571–573.CrossRefGoogle Scholar
Oppenheimer, D.R. (1958). Diseases of the basal ganglia, cerebellar and motor neurons in Greenfield’s Neuropathology, Blackwood W, Corsellis JAN (Eds) Arnold, E. Pubi., London pp 608–651.Google Scholar
Pelley, J.W., Gwinne, H.L., Linn, T.C. and Hell, F.F. (1962). Lipoamide dehydrogenase in serum: a preliminary report. Clin. Chem. 22: 275–276.CrossRefGoogle Scholar
Pernot, C. (1979). La myocardiopathie de la maladie de Friedreich. Arch. Franç. Pédiat. 36: 11–18.Google Scholar
Peyronnard, J.M., Bouchard, J.P., Lapointe, L., Lamontagne, A., Lemieux, B. and Barbeau, A. (1976). Nerve conduction studies and electro-myography in Friedreich’s ataxia. Can. J. Neurol. Sci. 3: 313–318.CrossRefGoogle Scholar
Philz, H., Duensing, I. and Heipertz, R. (1977). Adult metachromatic leukodystrophy. Europ. Neurol. 15: 301–307.Google Scholar
Roussy, G. and Levy, G. (1926). Sept cas d’une maladie familiale particuliére: troubles de la marche, pieds bots et aréflexie heudireuse généralisée avec accessoirement, lègére maladresse des mains. Rev. Neurol. 1: 427–450.Google Scholar
Shapcott, D., Melanäon, S.B., Butterworth, R.F., Khoury, K., Collii, R., Breton, G., Geoffroy, G., Lemieux, B. and Barbeau, A. (1976). Glucose and insulin metabolism in Friedreich’s ataxia. Can. J. Neurol. Sci. 3: 361–364.CrossRefGoogle ScholarPubMed
Tettamanti, G., Lombardo, A., Marchesini, A., Berra, B., Di Donato, S., Rimoldi, M. and Bertagnolio, B. (1977). Lipid storage diseases: biochemical diagnosis. Biochem. Exp. Biol. 13: 45–62.Google ScholarPubMed
Thoren, C. (1962). Diabetes mellitus in Friedreich’s ataxia. Acta Pediat. Suppl. 135: 233.Google ScholarPubMed
Tyrer, J.H. (1975). Friedreich’s ataxia; in: Handbook of Clinical Neurology Vol. 21 (Vinken, P.J. and Bruyn, G.W. eds.) North Holland Pubi. Co. Amsterdam pp 319–364.Google Scholar
Welker, J.L., Chamberlain, S. and Robinson, N. (1980). Lipids and lipoproteins in Friedreich’s ataxia. J. Neurol. Neurosurg. Psych. 43: 111–117.CrossRefGoogle Scholar
Wengen, D.A., Goodman, S.I. and Myers, G.G. (1974). B-Galactosidase deficiency in young adults. Lancet 2: 13–19.Google Scholar
Wiechers, D., Guyton, J.D. and Johnson, E.W. (1976). Electromyographic findings in the extensor digitorum brevis in a normal population. Arch. Physical Med. and Rehabilitation 57: 84–85.Google Scholar
Williams, L.L. (1979). Pyruvate oxidation in Charcot-Marie-Tooth disease. Neurology 29: 1492–1498.CrossRefGoogle ScholarPubMed